rs609959
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001135254.2(PAX7):c.1155+16029G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.896 in 152,270 control chromosomes in the GnomAD database, including 61,223 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.90 ( 61223 hom., cov: 33)
Consequence
PAX7
NM_001135254.2 intron
NM_001135254.2 intron
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.596
Genes affected
PAX7 (HGNC:8621): (paired box 7) This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2008]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.91).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.934 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAX7 | NM_001135254.2 | c.1155+16029G>A | intron_variant | ENST00000420770.7 | NP_001128726.1 | |||
PAX7 | NM_002584.3 | c.1155+16029G>A | intron_variant | NP_002575.1 | ||||
PAX7 | NM_013945.3 | c.1149+16029G>A | intron_variant | NP_039236.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PAX7 | ENST00000420770.7 | c.1155+16029G>A | intron_variant | 1 | NM_001135254.2 | ENSP00000403389.2 | ||||
PAX7 | ENST00000375375.7 | c.1155+16029G>A | intron_variant | 1 | ENSP00000364524.3 | |||||
PAX7 | ENST00000400661.3 | c.1149+16029G>A | intron_variant | 1 | ENSP00000383502.3 |
Frequencies
GnomAD3 genomes AF: 0.896 AC: 136336AN: 152152Hom.: 61169 Cov.: 33
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We have no GnomAD4 exomes data on this position. Probably position not covered by the project.
GnomAD4 genome AF: 0.896 AC: 136448AN: 152270Hom.: 61223 Cov.: 33 AF XY: 0.898 AC XY: 66837AN XY: 74444
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3179
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3478
ClinVar
Not reported inComputational scores
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Name
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
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SpliceAI score (max)
Details are displayed if max score is > 0.2
Find out detailed SpliceAI scores and Pangolin per-transcript scores at